Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.
Abnormalities, Multiple
/ diagnosis
Child
Child, Preschool
Cleft Palate
/ diagnosis
Dermatology
/ statistics & numerical data
Ectodermal Dysplasia
/ classification
Epidermolysis Bullosa
/ diagnosis
Female
Hearing Loss, Sensorineural
/ diagnosis
Humans
Infant
Infant, Newborn
Intellectual Disability
/ diagnosis
Keratoderma, Palmoplantar
/ diagnosis
Male
Retrospective Studies
Scalp
/ pathology
Syndactyly
/ diagnosis
Tertiary Care Centers
Journal
Clinical and experimental dermatology
ISSN: 1365-2230
Titre abrégé: Clin Exp Dermatol
Pays: England
ID NLM: 7606847
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
27
05
2020
accepted:
30
05
2020
pubmed:
6
6
2020
medline:
29
7
2021
entrez:
6
6
2020
Statut:
ppublish
Résumé
Aplasia cutis congenita (ACC) is a rare, congenital disorder characterized by localized or widespread absence of skin at birth with heterogeneous clinical presentation. The classification proposed by Frieden in 1986 is widely used. To establish whether, 34 years on, the Frieden classification still meets the needs of dermatologists. We conducted a retrospective chart review of all patients with a diagnosis of ACC presenting over a 25-year period to a tertiary paediatric dermatology department. We compiled demographic data, clinical characteristics (e.g. number, location and morphology of the lesions), imaging and genetic results where available, and other associated abnormalities, and grouped them according to the Frieden classification. For Type 6 ACC (Bart syndrome) we reviewed neonatal photographs of all babies born with epidermolysis bullosa (EB) over 5 years. Excluding Type 6, there were 56 children with ACC. The scalp was involved in 82.1%, and Type 1 was the commonest type. Over 5 years, 13 of 108 neonates (12%) with EB were born with the appearance of Type 6 ACC. Two children did not fit Frieden's original classification and one had a previously undescribed association of ACC with cleft lip/palate-ectodermal dysplasia 1 syndrome. We conclude that the Frieden classification remains valid with some modifications. Type 3 ACC probably represents a mosaic RASopathy syndrome, while Type 7 could cover nongenetic ACC attributable to trauma. Type 8 should be subdivided into two subgroups: teratogenic and infective. Type 9 covers at least four subgroups. The classification will continue to evolve as new genes and pathomechanisms emerge.
Sections du résumé
BACKGROUND
BACKGROUND
Aplasia cutis congenita (ACC) is a rare, congenital disorder characterized by localized or widespread absence of skin at birth with heterogeneous clinical presentation. The classification proposed by Frieden in 1986 is widely used.
AIM
OBJECTIVE
To establish whether, 34 years on, the Frieden classification still meets the needs of dermatologists.
METHODS
METHODS
We conducted a retrospective chart review of all patients with a diagnosis of ACC presenting over a 25-year period to a tertiary paediatric dermatology department. We compiled demographic data, clinical characteristics (e.g. number, location and morphology of the lesions), imaging and genetic results where available, and other associated abnormalities, and grouped them according to the Frieden classification. For Type 6 ACC (Bart syndrome) we reviewed neonatal photographs of all babies born with epidermolysis bullosa (EB) over 5 years.
RESULTS
RESULTS
Excluding Type 6, there were 56 children with ACC. The scalp was involved in 82.1%, and Type 1 was the commonest type. Over 5 years, 13 of 108 neonates (12%) with EB were born with the appearance of Type 6 ACC. Two children did not fit Frieden's original classification and one had a previously undescribed association of ACC with cleft lip/palate-ectodermal dysplasia 1 syndrome.
CONCLUSION
CONCLUSIONS
We conclude that the Frieden classification remains valid with some modifications. Type 3 ACC probably represents a mosaic RASopathy syndrome, while Type 7 could cover nongenetic ACC attributable to trauma. Type 8 should be subdivided into two subgroups: teratogenic and infective. Type 9 covers at least four subgroups. The classification will continue to evolve as new genes and pathomechanisms emerge.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
994-1002Informations de copyright
© 2020 British Association of Dermatologists.
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